(Q38761867)

6 September 2017

Inherited ichthyosis: Non-syndromic forms (English)

1 reference

6 September 2017

Takuya Takeichi

1

1 reference

PubMed ID

26945532

6 September 2017

Masashi Akiyama

series ordinal

2

1 reference

6 September 2017

1 March 2016

1 reference

The Journal of Dermatology

6 September 2017

1 reference

6 September 2017

43

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6 September 2017

3

1 reference

6 September 2017

242-251

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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

6 September 2017

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

The cornified envelope: a model of cell death in the skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

The multifunctional role of filaggrin in allergic skin disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Prenatal diagnosis as a test for genodermatoses: its past, present and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Reduced expression of epidermal growth factor receptor, E-cadherin, and occludin in the skin of flaky tail mice is due to filaggrin and loricrin deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Gap junctions: basic structure and function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Oral retinoic acid as therapy for erythrokeratoderma variabilis*

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Erythrokeratoderma variabilis responding to low-dose isotretinoin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Burden of inherited ichthyosis: a French national survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Self-Healing Collodion Baby: a Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2F1346-8138.13243

21 January 2018

Identifiers

DOI

10.1111/1346-8138.13243

1 reference

6 September 2017

1 reference

PubMed ID

26945532